 Nervous System Malformations
"Nervous System Malformations" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
| Descriptor ID |
D009421
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| MeSH Number(s) |
C10.500 C16.131.666
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| Concept/Terms |
Nervous System Malformations- Nervous System Malformations
- Malformation, Nervous System
- Malformations, Nervous System
- Nervous System Malformation
- Abnormalities, Nervous System
- Abnormality, Nervous System
- Nervous System Abnormality
- Anomalies, Nervous System
- Anomaly, Nervous System
- Nervous System Anomaly
- Congenital Abnormalities, Nervous System
- Congenital Anomalies, Nervous System
- Nervous System Malformations, Congenital
- Malformations, Nervous System, Congenital
- Nervous System Abnormalities
- Nervous System Anomalies
- Nervous System Congenital Abnormalities
- Nervous System Congenital Malformations
- Abnormalities, Congenital, Nervous System
- Congenital Malformations, Nervous System
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Below are MeSH descriptors whose meaning is more general than "Nervous System Malformations".
Below are MeSH descriptors whose meaning is more specific than "Nervous System Malformations".
This graph shows the total number of publications written about "Nervous System Malformations" by people in this website by year, and whether "Nervous System Malformations" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 0 | 2 | 2 | | 2009 | 0 | 1 | 1 | | 2012 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2016 | 0 | 1 | 1 | | 2017 | 1 | 0 | 1 | | 2018 | 3 | 0 | 3 | | 2020 | 2 | 2 | 4 | | 2022 | 5 | 0 | 5 | | 2023 | 5 | 0 | 5 | | 2024 | 2 | 0 | 2 | | 2025 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Nervous System Malformations" by people in Profiles.
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Yamazaki S, Kaneko S, Shimbo A, Irabu H, Ogino R, Miyamoto T, Izawa K, Segawa Y, Kakizaki J, Mori M, Shimizu M. Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis. Immunol Med. 2025 Sep; 48(3):256-260.
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Gavazzi F, Vaia Y, Woidill S, Formanowski B, Peixoto de Barcelos I, Sevagamoorthy A, Modesti NB, Charlton L, Cusack SV, Vincent A, D'Aiello R, Jawad A, Galli J, Varesio C, Fazzi E, Orcesi S, Glanzman AM, Lorch S, DeMauro SB, Guez-Barber D, Waldman AT, Vanderver A, Adang LA. Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome. Neurology. 2024 Jul 09; 103(1):e209541.
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Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 04 04; 147(4):1436-1456.
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Alves CAPF, Sidpra J, Manteghinejad A, Sudhakar S, Massey FV, Aldinger KA, Haldipur P, Lucato LT, Ferraciolli SF, Teixeira SR, Öztekin Ö, Bhattacharya D, Taranath A, Prabhu SP, Mirsky DM, Andronikou S, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Barkovich MJ, Whitehead MT, Mankad K. Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis. AJNR Am J Neuroradiol. 2023 10; 44(10):1201-1207.
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Fogel LA, Bigley TM, Cole JJ, Estabrook MM, Kitcharoensakkul M. Aicardi-Goutières syndrome presenting with pneumocystis jirovecii pneumonia. Pediatr Allergy Immunol. 2023 06; 34(6):e13968.
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Langeberg CJ, Nichols PJ, Henen MA, Vicens Q, Vögeli B. Differential Structural Features of Two Mutant ADAR1p150 Za Domains Associated with Aicardi-Goutières Syndrome. J Mol Biol. 2023 04 15; 435(8):168040.
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Costa MDCN, Cardim LL, Moore CA, de Jesus EDS, Carvalho-Sauer R, Barreto ML, Rodrigues LC, Smeeth L, Schuler-Faccini L, Brickley EB, Oliveira WK, Carmo EH, Pescarini JM, Andrade RFS, Rodrigues MMS, Veiga RV, Costa LC, França GVA, Teixeira MG, Paixão ES. Causes of death in children with congenital Zika syndrome in Brazil, 2015 to 2018: A nationwide record linkage study. PLoS Med. 2023 02; 20(2):e1004181.
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Leung ML, Woodhull W, Uggenti C, Schord S, Mato RP, Rodriguez DP, Ream M, Crow YJ, Mori M. Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome. Eur J Med Genet. 2023 Apr; 66(4):104731.
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Schmitt K, Curlin JZ, Remling-Mulder L, Aboellail T, Akkina R. Zika virus induced microcephaly and aberrant hematopoietic cell differentiation modeled in novel neonatal humanized mice. Front Immunol. 2023; 14:1060959.
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Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 02 02; 110(2):215-227.
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